MSD
MCID: MLT135
MIFTS: 53

Multiple Sulfatase Deficiency (MSD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Sulfatase Deficiency

MalaCards integrated aliases for Multiple Sulfatase Deficiency:

Name: Multiple Sulfatase Deficiency 56 74 24 52 25 58 73 36 29 13 54 6
Mucosulfatidosis 56 12 74 52 25 58 73 15
Msd 56 52 25 58 73
Multiple Sulfatase Deficiency Disease 12 43 71
Sulfatidosis, Juvenile, Austin Type 56 12 71
Juvenile Sulfatidosis, Austin Type 25 58
Sulfatidosis Juvenile, Austin Type 52
Sulfatidosis Juvenile Austin Type 73
Sulfatase Deficiency, Multiple 39
Juvenile Sulfatidosis 52
Austin Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
multiple sulfatase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in the first 4 years of life
neonatal and late-infantile onset
later onset is associated with slower progression and lesser severity


HPO:

31
multiple sulfatase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Multiple Sulfatase Deficiency

Genetics Home Reference : 25 Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as "coarse." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time. The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency. Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen.

MalaCards based summary : Multiple Sulfatase Deficiency, also known as mucosulfatidosis, is related to metachromatic leukodystrophy and leukodystrophy, and has symptoms including ataxia and muscle spasticity. An important gene associated with Multiple Sulfatase Deficiency is SUMF1 (Sulfatase Modifying Factor 1), and among its related pathways/superpathways are Lysosome and Metabolism. Affiliated tissues include skin, brain and liver, and related phenotypes are intellectual disability and developmental regression

Disease Ontology : 12 A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has material basis in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.

NIH Rare Diseases : 52 Multiple sulfatase deficiency is a lysosomal storage disorder that mainly affects the brain, skin, and skeleton. The signs and symptoms of this condition vary widely, prompting researchers to divide it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing soon after birth. The late-infantile type is the most common form and usually presents as progressive loss of mental abilities and movement after a period of normal development. The juvenile type is rare, with a slow regression of psychomotor development in mid to late childhood. Life expectancy is shortened in all types. Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene . It is inherited in an autosomal recessive pattern. There is no cure for multiple sulfatase deficiency. Treatment includes physical therapy and supportive services.

OMIM : 56 Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features of metachromatic leukodystrophy (250100) and of various mucopolysaccharidoses (see, e.g., MPS6; 253200). Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and ichthyosis. Different types of MSD can be distinguished according to the age of onset: neonatal, late infantile (0 to 2 years), and juvenile (2 to 4 years). Neonatal MSD is the most severe form with a broad range of mucopolysaccharidosis-like symptoms and death within the first year of life. Late-infantile MSD, which includes the majority of cases, resembles late-infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities and skeletal changes. There is also an attenuated form of late-infantile MSD with onset beyond the second year of life. Rare cases of juvenile-onset MSD have been reported with onset of symptoms in late childhood and slower progression (Blanco-Aguirre et al., 2001) (summary by Schlotawa et al., 2011). (272200)

KEGG : 36 Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal sulfatases by generating formylglycine in their catalytic sites. MSD is known to combine sulfatase deficiency and clinical features of metachromatic leukodystrophy [DS:H00127]. The clinical course ranges from neonatal severe to mild juvenile cases.

UniProtKB/Swiss-Prot : 73 Multiple sulfatase deficiency: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay.

Wikipedia : 74 Multiple sulfatase deficiency (also known as "Austin disease", and "mucosulfatidosis") is a very rare... more...

GeneReviews: NBK538937

Related Diseases for Multiple Sulfatase Deficiency

Diseases related to Multiple Sulfatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 31.3 SUMF1 STS IDS ARSH ARSB ARSA
2 leukodystrophy 30.7 SUMF1 ARSH ARSB ARSA
3 ichthyosis, x-linked 30.5 SUMF1 STS ARSH
4 mucopolysaccharidoses 30.4 ARSH ARSB
5 chondrodysplasia punctata syndrome 30.2 STS ARSH
6 ichthyosis 30.0 SUMF1 STS ARSH ARSB ARSA
7 hydrocephalus 30.0 SUMF1 ARSH ARSB ARSA
8 mucopolysaccharidosis, type vi 30.0 SUMF1 IDS GNS GALNS ARSH ARSB
9 inherited metabolic disorder 29.5 NPC1 GALNS ARSA
10 mucopolysaccharidosis-plus syndrome 28.6 SUMF1 IDS GNS GALNS ARSH ARSB
11 mucolipidosis 28.5 SUMF1 NPC1 GALNS ARSH ARSA
12 mucopolysaccharidosis, type ii 27.8 SUMF1 IDS GNS GALNS ARSH ARSB
13 lysosomal storage disease 27.5 SUMF1 NPC1 IDS GNS GALNS ARSH
14 paine syndrome 11.4
15 spastic diplegia 11.2
16 aminoaciduria 11.2
17 thyroid carcinoma 10.4
18 autosomal recessive disease 10.4
19 prostatic hypertrophy 10.3
20 prostatic adenoma 10.3
21 hypotonia 10.3
22 pelizaeus-merzbacher disease 10.3
23 prostatic hyperplasia, benign 10.3
24 differentiated thyroid carcinoma 10.2
25 microcephaly 10.2
26 retinal degeneration 10.2
27 multiple sclerosis 10.1
28 bronchopneumonia 10.1
29 mucopolysaccharidosis, type iva 10.1 GALNS ARSH
30 branchiootic syndrome 1 10.1
31 exanthem 10.1
32 dysostosis 10.1
33 lysosomal storage disease with skeletal involvement 10.1
34 morquio syndrome 10.1 GALNS ARSH
35 glycoproteinosis 10.1 GALNS ARSH
36 krabbe disease 10.0 ARSH ARSA
37 gastroesophageal reflux 10.0
38 hypercholesterolemia, familial, 1 10.0
39 hypertension, essential 10.0
40 cystic fibrosis 10.0
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
42 meester-loeys syndrome 10.0
43 cervical cancer 10.0
44 body mass index quantitative trait locus 1 10.0
45 pulmonary disease, chronic obstructive 10.0
46 zollinger-ellison syndrome 10.0
47 keratoconus 10.0
48 bacterial infectious disease 10.0
49 hypospadias 10.0
50 respiratory failure 10.0

Graphical network of the top 20 diseases related to Multiple Sulfatase Deficiency:



Diseases related to Multiple Sulfatase Deficiency

Symptoms & Phenotypes for Multiple Sulfatase Deficiency

Human phenotypes related to Multiple Sulfatase Deficiency:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
5 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
6 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
7 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
8 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
9 abnormality of peripheral nerve conduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0003134
10 rapid neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007307
11 mucopolysacchariduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008155
12 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
13 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
14 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
15 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
16 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
17 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
18 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
19 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
22 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
23 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
24 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
25 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
26 coarse hair 58 31 frequent (33%) Frequent (79-30%) HP:0002208
27 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
28 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
29 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
30 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
31 spasticity 31 HP:0001257
32 ataxia 31 HP:0001251
33 hearing impairment 31 HP:0000365
34 retinal degeneration 31 HP:0000546
35 dysostosis multiplex 31 HP:0000943
36 prominent forehead 31 HP:0011220
37 flat face 31 HP:0012368
38 ventriculomegaly 31 HP:0002119
39 large forehead 31 HP:0002003
40 periorbital edema 31 HP:0100539
41 cerebellar atrophy 31 HP:0001272
42 lower limb hyperreflexia 31 HP:0002395
43 peripheral demyelination 31 HP:0011096
44 cerebral atrophy 31 HP:0002059
45 hypoplastic vertebral bodies 31 HP:0008479
46 abnormality of the periventricular white matter 31 HP:0002518
47 increased csf protein 31 HP:0002922
48 broad hallux 31 HP:0010055
49 cns demyelination 31 HP:0007305

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
ataxia
hydrocephalus
cerebellar atrophy
cerebral atrophy
more
Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Skin Nails Hair Skin:
ichthyosis

Head And Neck Face:
prominent forehead
flat face
large forehead
periorbital edema
coarse facies

Skeletal Hands:
broad thumbs
broad index fingers

Head And Neck Ears:
deafness (variable)

Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
retinal degeneration
corneal clouding (variable)

Muscle Soft Tissue:
neonatal hypotonia

Skeletal:
dysostosis multiplex

Skeletal Spine:
hypoplastic vertebral bodies

Head And Neck Nose:
upturned nose

Laboratory Abnormalities:
decreased activities of multiple sulfatases
urinary excretion of mucopolysaccharides
accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

Clinical features from OMIM:

272200

UMLS symptoms related to Multiple Sulfatase Deficiency:


ataxia, muscle spasticity

GenomeRNAi Phenotypes related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 IDS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 ARSB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 ARSB IDS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 GALNS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 GALNS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.7 IDS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.7 IDS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.7 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.7 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 IDS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 ARSB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 ARSB IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.7 ARSB GALNS IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.7 IDS

Drugs & Therapeutics for Multiple Sulfatase Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200

Search NIH Clinical Center for Multiple Sulfatase Deficiency

Cochrane evidence based reviews: multiple sulfatase deficiency disease

Genetic Tests for Multiple Sulfatase Deficiency

Genetic tests related to Multiple Sulfatase Deficiency:

# Genetic test Affiliating Genes
1 Multiple Sulfatase Deficiency 29 SUMF1

Anatomical Context for Multiple Sulfatase Deficiency

MalaCards organs/tissues related to Multiple Sulfatase Deficiency:

40
Skin, Brain, Liver, Spleen, Heart, Prostate, Eye

Publications for Multiple Sulfatase Deficiency

Articles related to Multiple Sulfatase Deficiency:

(show top 50) (show all 148)
# Title Authors PMID Year
1
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. 54 61 24 56 6
12757705 2003
2
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. 61 24 56 6
21224894 2011
3
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. 54 61 56 6
12757706 2003
4
Multiple sulphatase deficiency presenting at birth. 24 56 6
3100114 1986
5
Unusual clinical presentation in two cases of multiple sulfatase deficiency. 54 61 24 56
11737681 2001
6
A block of autophagy in lysosomal storage disorders. 61 24 56
17913701 2008
7
Early manifestations of multiple sulfatase deficiency. 61 24 56
6142938 1984
8
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. 54 61 56
17360554 2007
9
A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. 54 61 56
7628016 1995
10
Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. 54 61 56
1348358 1992
11
Multiple Sulfatase Deficiency 61 6
30896912 2019
12
Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient. 54 61 24
19697114 2009
13
Neonatal manifestation of multiple sulfatase deficiency. 54 61 24
19066960 2009
14
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. 54 61 24
19124046 2009
15
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. 54 61 24
18508857 2008
16
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 54 61 24
18157819 2008
17
Difficulty in recognizing multiple sulfatase deficiency in an infant. 54 61 24
16510683 2006
18
Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. 54 61 24
16174644 2005
19
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. 54 61 24
15907468 2005
20
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. 54 61 24
15146462 2004
21
The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes. 54 61 24
14563551 2003
22
Multiple sulfatase deficiency: clinical, neuropathological, ultrastructural and biochemical studies. 54 61 24
1694540 1990
23
Multiple sulfatase deficiency. 61 56
2899861 1988
24
Complementation of multiple sulfatase deficiency in somatic cell hybrids. 61 56
6731437 1984
25
A newly recognized cause of low urinary estriol in pregnancy: multiple sulfatase deficiency of the fetus. 61 56
7262633 1981
26
Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis. 61 56
523191 1979
27
Genetic complementation studies of multiple sulfatase deficiency. 61 56
118467 1979
28
Urinary acid mucopolysaccharides in multiple sulfatase deficiency (mucosulfatidosis). 61 56
159821 1979
29
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts. 61 56
41450 1979
30
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. 61 56
27985 1978
31
[Combination of metachromatic leucodystrophy and mucopolysaccharidosis: a disease entity (mucosulfatidosis)]. 61 56
4250178 1970
32
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency. 61 24
29048999 2018
33
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. 61 24
29972788 2018
34
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. 61 24
29397290 2018
35
Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency. 61 24
28032298 2017
36
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. 61 24
28566233 2017
37
A Patient With Atypical Multiple Sulfatase Deficiency. 61 24
26825355 2016
38
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool? 61 24
27344646 2016
39
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency. 61 24
25885655 2015
40
Multiple sulfatase deficiency with neonatal manifestation. 61 24
25516103 2014
41
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey. 61 24
25373814 2014
42
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China]. 61 24
24484558 2013
43
Multiple sulfatase deficiency: A case series of four children. 61 24
24339620 2013
44
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
45
Multiple sulphatase deficiency and haemophagocytic syndrome. 56
9686814 1998
46
Pathochemistry, pathogenesis and enzyme replacement in multiple-sulfatase deficiency. 61 24
2894304 1987
47
Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. 56
3860470 1985
48
Biochemical variability of arylsulphatases -A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency. 56
6142143 1983
49
Genetic heterogeneity in metachromatic leukodystrophy. 56
6122378 1982
50
[Metabolic encephalopathy associating mucopolysaccharidosis and sulfatidosis]. 56
4229601 1967

Variations for Multiple Sulfatase Deficiency

ClinVar genetic disease variations for Multiple Sulfatase Deficiency:

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUMF1 NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)SNV Pathogenic 225909 rs1085307107 3:4494667-4494667 3:4452983-4452983
2 SUMF1 NM_182760.4(SUMF1):c.519+5_519+8delshort repeat Pathogenic 2663 rs775324176 3:4490942-4490945 3:4449258-4449261
3 SUMF1 NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter)SNV Pathogenic 2664 rs137852844 3:4403877-4403877 3:4362193-4362193
4 SUMF1 NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)SNV Pathogenic 2665 rs137852845 3:4418049-4418049 3:4376365-4376365
5 SUMF1 NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)SNV Pathogenic 2667 rs137852847 3:4403907-4403907 3:4362223-4362223
6 SUMF1 NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)SNV Pathogenic 2668 rs137852848 3:4418022-4418022 3:4376338-4376338
7 SUMF1 SUMF1, 1-BP DEL, 243Cdeletion Pathogenic 2670
8 SUMF1 NM_182760.4(SUMF1):c.661del (p.Ala221fs)deletion Pathogenic 2671 rs770241913 3:4459758-4459758 3:4418074-4418074
9 SUMF1 NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)SNV Pathogenic 2673 rs137852851 3:4508928-4508928 3:4467244-4467244
10 SUMF1 SUMF1, 1-BP DEL, 276Cdeletion Pathogenic 2674
11 SUMF1 NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)SNV Pathogenic 2675 rs137852852 3:4403920-4403920 3:4362236-4362236
12 SUMF1 NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)SNV Pathogenic 2676 rs137852853 3:4403911-4403911 3:4362227-4362227
13 SUMF1 NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)SNV Pathogenic 2677 rs137852854 3:4459766-4459766 3:4418082-4418082
14 SUMF2 NM_015411.4(SUMF2):c.536-2deldeletion Pathogenic 2678 7:56144525-56144525 7:56076832-56076832
15 SUMF1 NM_182760.4(SUMF1):c.1A>G (p.Met1Val)SNV Pathogenic 2679 rs137852855 3:4508929-4508929 3:4467245-4467245
16 SUMF1 NM_182760.4(SUMF1):c.788G>T (p.Gly263Val)SNV Pathogenic 30689 rs387906976 3:4458864-4458864 3:4417180-4417180
17 SUMF1 NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)SNV Pathogenic 488612 rs1553575867 3:4461808-4461808 3:4420124-4420124
18 SUMF1 NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter)SNV Pathogenic 638975 3:4459760-4459760 3:4418076-4418076
19 SUMF1 NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter)SNV Pathogenic 646769 3:4508664-4508664 3:4466980-4466980
20 SUMF1 NC_000003.11:g.(?_4490940)_(4508939_?)deldeletion Pathogenic 666213 3:4490940-4508939 3:4449256-4467255
21 SUMF1 NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)SNV Pathogenic/Likely pathogenic 2672 rs137852850 3:4491006-4491006 3:4449322-4449322
22 SUMF1 NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)SNV Likely pathogenic 2666 rs137852846 3:4403908-4403908 3:4362224-4362224
23 SUMF1 NM_182760.4(SUMF1):c.726-1_726deldeletion Likely pathogenic 657496 3:4458926-4458927 3:4417242-4417243
24 SUMF1 NM_182760.4(SUMF1):c.25_270+3deldeletion Likely pathogenic 642142 3:4508657-4508905 3:4466973-4467221
25 SUMF1 NM_182760.4(SUMF1):c.244G>T (p.Gly82Ter)SNV Likely pathogenic 557619 rs986500427 3:4508686-4508686 3:4467002-4467002
26 SUMF1 NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)SNV Likely pathogenic 371554 rs1057517363 3:4458913-4458913 3:4417229-4417229
27 SUMF1 NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)SNV Conflicting interpretations of pathogenicity 418724 rs1064793391 3:4458867-4458867 3:4417183-4417183
28 SUMF1 NM_182760.4(SUMF1):c.95C>T (p.Ala32Val)SNV Conflicting interpretations of pathogenicity 345328 rs374677940 3:4508835-4508835 3:4467151-4467151
29 SUMF1 NM_182760.4(SUMF1):c.606G>A (p.Pro202=)SNV Conflicting interpretations of pathogenicity 345317 rs141957829 3:4459813-4459813 3:4418129-4418129
30 SUMF1 NM_182760.4(SUMF1):c.891C>T (p.Asn297=)SNV Conflicting interpretations of pathogenicity 345315 rs143754187 3:4452612-4452612 3:4410928-4410928
31 SUMF1 NM_182760.4(SUMF1):c.519A>G (p.Ala173=)SNV Conflicting interpretations of pathogenicity 345320 rs146050361 3:4490950-4490950 3:4449266-4449266
32 SUMF1 NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)SNV Conflicting interpretations of pathogenicity 2669 rs137852849 3:4458816-4458816 3:4417132-4417132
33 SUMF1 NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg)SNV Conflicting interpretations of pathogenicity 345316 rs137917233 3:4459755-4459755 3:4418071-4418071
34 SUMF1 NM_182760.4(SUMF1):c.602+12C>TSNV Uncertain significance 345319 rs200971871 3:4461736-4461736 3:4420052-4420052
35 SUMF1 NM_182760.4(SUMF1):c.434A>G (p.Tyr145Cys)SNV Uncertain significance 345322 rs886058520 3:4494570-4494570 3:4452886-4452886
36 SUMF1 NM_182760.4(SUMF1):c.*819G>ASNV Uncertain significance 345291 rs886058511 3:4403009-4403009 3:4361325-4361325
37 SUMF1 NM_182760.4(SUMF1):c.*692A>GSNV Uncertain significance 345294 rs886058513 3:4403136-4403136 3:4361452-4361452
38 SUMF1 NM_182760.4(SUMF1):c.*639T>CSNV Uncertain significance 345296 rs886058514 3:4403189-4403189 3:4361505-4361505
39 SUMF1 NM_182760.4(SUMF1):c.*976A>GSNV Uncertain significance 345286 rs886058510 3:4402852-4402852 3:4361168-4361168
40 SUMF1 NM_182760.4(SUMF1):c.*578C>GSNV Uncertain significance 345297 rs886058515 3:4403250-4403250 3:4361566-4361566
41 SUMF1 NM_182760.4(SUMF1):c.491A>T (p.Glu164Val)SNV Uncertain significance 345321 rs886058519 3:4490978-4490978 3:4449294-4449294
42 SUMF1 NM_182760.4(SUMF1):c.*949G>ASNV Uncertain significance 345287 rs575414528 3:4402879-4402879 3:4361195-4361195
43 SUMF1 NM_182760.4(SUMF1):c.*874C>TSNV Uncertain significance 345289 rs145484019 3:4402954-4402954 3:4361270-4361270
44 SUMF1 NM_182760.4(SUMF1):c.*836C>GSNV Uncertain significance 345290 rs140229372 3:4402992-4402992 3:4361308-4361308
45 SUMF1 NM_182760.4(SUMF1):c.271-7A>GSNV Uncertain significance 345323 rs371283922 3:4494740-4494740 3:4453056-4453056
46 SUMF1 NM_182760.4(SUMF1):c.263A>C (p.His88Pro)SNV Uncertain significance 345324 rs768876680 3:4508667-4508667 3:4466983-4466983
47 SUMF1 NM_182760.4(SUMF1):c.177C>T (p.Gly59=)SNV Uncertain significance 345327 rs774739457 3:4508753-4508753 3:4467069-4467069
48 SUMF1 NM_182760.4(SUMF1):c.*218T>CSNV Uncertain significance 345309 rs532640038 3:4403610-4403610 3:4361926-4361926
49 SUMF1 NM_182760.4(SUMF1):c.1015-8C>TSNV Uncertain significance 345313 rs886058517 3:4403946-4403946 3:4362262-4362262
50 SUMF1 NM_182760.4(SUMF1):c.*809C>TSNV Uncertain significance 345292 rs886058512 3:4403019-4403019 3:4361335-4361335

UniProtKB/Swiss-Prot genetic disease variations for Multiple Sulfatase Deficiency:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 SUMF1 p.Ser155Pro VAR_016053 rs137852850
2 SUMF1 p.Cys218Tyr VAR_016054 rs137852854
3 SUMF1 p.Ala279Val VAR_016055 rs137852849
4 SUMF1 p.Cys336Arg VAR_016056 rs137852848
5 SUMF1 p.Arg345Cys VAR_016057 rs137852852
6 SUMF1 p.Ala348Pro VAR_016058 rs137852853
7 SUMF1 p.Arg349Gln VAR_016059 rs137852847
8 SUMF1 p.Arg349Trp VAR_016060 rs137852846
9 SUMF1 p.Leu20Phe VAR_019050 rs200142963
10 SUMF1 p.Ala177Pro VAR_019051
11 SUMF1 p.Arg224Trp VAR_019052 rs759888604
12 SUMF1 p.Asn259Ile VAR_019053 rs764215221
13 SUMF1 p.Pro266Leu VAR_019054 rs763243827
14 SUMF1 p.Trp179Ser VAR_042602 rs757323641
15 SUMF1 p.Gly247Arg VAR_080468 rs105751736
16 SUMF1 p.Gly263Val VAR_080469 rs387906976

Expression for Multiple Sulfatase Deficiency

Search GEO for disease gene expression data for Multiple Sulfatase Deficiency.

Pathways for Multiple Sulfatase Deficiency

Pathways related to Multiple Sulfatase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142

GO Terms for Multiple Sulfatase Deficiency

Cellular components related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 NPC1 GNS GALNS ERP44 ARSB ARSA
2 extracellular exosome GO:0070062 9.85 NPC1 GNS GALNS ERP44 ARSB ARSA
3 endoplasmic reticulum GO:0005783 9.8 SUMF2 SUMF1 STS NPC1 ERP44 ARSA
4 azurophil granule lumen GO:0035578 9.56 GNS GALNS ARSB ARSA
5 lysosomal lumen GO:0043202 9.55 IDS GNS GALNS ARSB ARSA
6 lysosome GO:0005764 9.5 STS NPC1 IDS GNS GALNS ARSB
7 endoplasmic reticulum lumen GO:0005788 9.17 SUMF2 SUMF1 STS ERP44 ARSH ARSB

Biological processes related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.61 NPC1 ARSB ARSA
2 response to estrogen GO:0043627 9.48 ARSB ARSA
3 glycosaminoglycan catabolic process GO:0006027 9.46 IDS GNS
4 lysosomal transport GO:0007041 9.4 NPC1 ARSB
5 chondroitin sulfate catabolic process GO:0030207 9.37 IDS ARSB
6 neutrophil degranulation GO:0043312 9.35 GNS GALNS ERP44 ARSB ARSA
7 keratan sulfate catabolic process GO:0042340 9.32 GNS GALNS
8 response to pH GO:0009268 9.26 ARSB ARSA
9 response to methylmercury GO:0051597 9.16 ARSB ARSA
10 glycosphingolipid metabolic process GO:0006687 8.92 SUMF2 SUMF1 STS ARSA

Molecular functions related to Multiple Sulfatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.97 SUMF2 SUMF1 STS IDS GNS GALNS
2 hydrolase activity GO:0016787 9.8 STS IDS GNS GALNS ARSH ARSB
3 arylsulfatase activity GO:0004065 9.35 STS GALNS ARSH ARSB ARSA
4 sulfuric ester hydrolase activity GO:0008484 9.17 STS IDS GNS GALNS ARSH ARSB
5 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 GALNS ARSB

Sources for Multiple Sulfatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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